原代人成纤维细胞的次黄嘌呤磷酸核糖转移酶（HPRT）基因中通过异常重组形成大片段缺失
Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.
作者信息
Morris T, Thacker J
机构信息
Medical Research Council Radiobiology Unit, Didcot, Oxon, England.
出版信息
Proc Natl Acad Sci U S A. 1993 Feb 15;90(4):1392-6. doi: 10.1073/pnas.90.4.1392.
Abstract
HPRT gene mutants were isolated from untreated and x-irradiated cultures of primary human fibroblasts, and mutants carrying large deletions were identified. The breakpoints of the deletions were mapped by methods based on the polymerase chain reaction, and the deletion junctions of four different mutants were sequenced. Alu repeats were associated with one end of three of these junctions, but in each case repeat sequences were not found at the other end. Sequence features found at the deletion breakpoints included in particular short direct and inverted repeats, which may mispair to promote illegitimate recombination. One mutant had additional bases inserted at the deletion junction; these bases formed a direct repeat with a sequence immediately adjacent to the junction, suggesting a mechanism of templated repair of broken DNA in deletion formation.
摘要
从未经处理和经X射线照射的原代人成纤维细胞培养物中分离出次黄嘌呤磷酸核糖转移酶（HPRT）基因突变体，并鉴定出携带大片段缺失的突变体。通过基于聚合酶链反应的方法对缺失的断点进行定位，并对四个不同突变体的缺失连接点进行测序。Alu重复序列与其中三个连接点的一端相关，但在每种情况下，另一端均未发现重复序列。在缺失断点处发现的序列特征尤其包括短的正向和反向重复序列，它们可能错配以促进异常重组。一个突变体在缺失连接点处插入了额外的碱基；这些碱基与紧邻连接点的序列形成了正向重复序列，提示了在缺失形成过程中破碎DNA的模板修复机制。
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